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rs387906388

From SNPedia

ClinVar
Risk rs387906388(;)
Alt rs387906388(;)
Reference rs387906388(GTCTAAGGGTTTCTCC;GTCTAAGGGTTTCTCC)
Significance Pathogenic
Disease Cone-rod dystrophy 3
Variation info
Gene ABCA4
CLNDBN Cone-rod dystrophy 3
Reversed 1
HGVS NC_000001.10:g.94505652_94505667del16
CLNSRC OMIM Allelic Variant
CLNACC RCV000008369.3,